Short answer · Medically reviewed summary · Last updated: 2026-04-07
Larsen syndrome is classified under the ICD-10 code Q74.8 (Other specified malformations of limb(s)) and the ICD-9 code 755.8 (Other specified congenital anomalies of limbs). These codes are used for medical billing and tracking the diagnosis of Larsen syndrome within healthcare systems globally. What is the clinical nature of Larsen syndrome? Larsen syndrome is a rare genetic disorder characterized by multiple congenital dislocations—most notably of the knees, hips, and elbows—along with distinct craniofacial features and skeletal abnormalities.
ICD10 code of Larsen syndrome and ICD9 code
ICD-10 and ICD-9 codes for Larsen syndrome, with classification details for clinicians, coders and patients.
Larsen syndrome is classified under the ICD-10 code Q74.8 (Other specified malformations of limb(s)) and the ICD-9 code 755.8 (Other specified congenital anomalies of limbs). These codes are used for medical billing and tracking the diagnosis of Larsen syndrome within healthcare systems globally.
What is the clinical nature of Larsen syndrome?
Larsen syndrome is a rare genetic disorder characterized by multiple congenital dislocations—most notably of the knees, hips, and elbows—along with distinct craniofacial features and skeletal abnormalities. Patients often present with clubfoot (talipes equinovarus) and cervical spine instability, which requires careful clinical monitoring. Because Larsen syndrome affects connective tissue development, the spectrum of severity can vary significantly even within the same family, making it essential to consult with multidisciplinary specialists who understand the complex orthopedic needs associated with this condition.
Is Larsen syndrome hereditary?
Yes, Larsen syndrome is a genetic condition typically inherited in an autosomal dominant pattern, though autosomal recessive cases have been documented. It is most frequently caused by mutations in the FLNB gene, which provides instructions for making the protein filamin B. This protein is essential for the development of the skeleton and the proper formation of joints. In our DiseaseMaps.org community, 58 people with Larsen syndrome have shared their experiences, highlighting the diverse ways this genetic inheritance manifests in daily life and the importance of genetic counseling for affected families.
How is Larsen syndrome diagnosed and managed?
Diagnosis of Larsen syndrome is primarily clinical, based on the presence of characteristic joint dislocations and facial features, such as a prominent forehead and depressed nasal bridge. Genetic testing to identify FLNB mutations is the gold standard for confirmation. Because Larsen syndrome involves systemic skeletal issues, management often requires a coordinated team approach. Clinical management typically includes:
- Orthopedic intervention: Serial casting, bracing, or surgical procedures to address joint dislocations and scoliosis.
- Cervical spine evaluation: Regular imaging to monitor for cervical instability, a critical risk factor in Larsen syndrome.
- Physical and Occupational Therapy: Essential for improving mobility and managing joint stiffness.
- Audiological monitoring: Periodic hearing screenings, as some individuals with Larsen syndrome may experience conductive hearing loss.
- Respiratory assessment: Monitoring for potential airway issues, particularly in infants and young children with neck or thoracic involvement.
How does the community support those with Larsen syndrome?
Living with a rare diagnosis like Larsen syndrome can feel isolating, but connecting with others who navigate similar medical challenges can provide invaluable emotional support. On DiseaseMaps.org, the 58 community members provide a space to share practical tips on navigating school accommodations, physical therapy routines, and managing the psychological impact of chronic orthopedic conditions. Sharing these lived experiences helps bridge the gap between clinical care and the day-to-day reality of living with this rare disorder.
Next steps
- Consult with a clinical geneticist to discuss testing and inheritance patterns within your family.
- Establish care with a pediatric orthopedic surgeon who has experience in complex congenital joint disorders.
- Connect with the 58 members of the Larsen syndrome community on DiseaseMaps.org to share resources and support.
- Request a baseline cervical spine MRI to rule out spinal instability, a priority for patients with this diagnosis.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.
